Variant report

Variant	nsv599143
Chromosome Location	chr5:98921515-99001200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr5:98927320-98927465	K562	blood:	n/a	n/a
2	CEBPB	chr5:98942379-98942440	HepG2	liver:	n/a	chr5:98942416-98942427
3	CEBPB	chr5:98922470-98923076	MCF-7	breast:	n/a	n/a
4	CEBPB	chr5:98926512-98927045	MCF-7	breast:	n/a	n/a
5	CEBPB	chr5:98986986-98987320	HepG2	liver:	n/a	chr5:98987138-98987149
6	CEBPB	chr5:98986993-98987297	IMR90	lung:	n/a	chr5:98987138-98987149
7	CEBPB	chr5:98986963-98987222	K562	blood:	n/a	chr5:98987138-98987149
8	CEBPB	chr5:98922562-98922967	MCF-7	breast:	n/a	n/a
9	CEBPB	chr5:98922716-98922875	A549	lung:	n/a	n/a
10	CEBPB	chr5:98949487-98949659	IMR90	lung:	n/a	chr5:98949503-98949516
11	CEBPB	chr5:98949448-98949665	A549	lung:	n/a	chr5:98949503-98949516
12	CEBPB	chr5:98930693-98930960	HepG2	liver:	n/a	chr5:98930825-98930836
13	CEBPB	chr5:98949483-98949681	HepG2	liver:	n/a	chr5:98949503-98949516
14	CEBPB	chr5:98922755-98922860	HepG2	liver:	n/a	n/a
15	CTCF	chr5:98982090-98982213	Gliobla	brain:	n/a	n/a
16	CTCF	chr5:98973060-98973153	GM20000	blood:	n/a	n/a
17	CTCF	chr5:98952074-98952106	Lung_OC	lung:	n/a	n/a
18	CTCF	chr5:98982114-98982207	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:98982097-98982220	MCF-7	breast:	n/a	n/a
20	CTCF	chr5:98982144-98982187	MCF-7	breast:	n/a	n/a
21	CTCF	chr5:98982000-98982150	HPF	lung:	n/a	n/a
22	CTCF	chr5:98982067-98982246	NHEK	skin:	n/a	n/a
23	CTCF	chr5:98982154-98982204	GM12891	blood:	n/a	n/a
24	CTCF	chr5:98982105-98982175	GM19239	blood:	n/a	n/a
25	CTCF	chr5:98994680-98994830	BE2_C	brain:	n/a	n/a
26	CTCF	chr5:98963782-98963860	ProgFib	skin:	n/a	n/a
27	CTCF	chr5:98982114-98982210	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:98982120-98982200	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:98982118-98982215	A549	lung:	n/a	n/a
30	CTCF	chr5:98973041-98973105	GM10248	blood:	n/a	n/a
31	CTCF	chr5:98949600-98949750	HRE	kidney:	n/a	n/a
32	CTCF	chr5:98934969-98935013	GM13976	blood:	n/a	n/a
33	CTCF	chr5:98956324-98956358	Gliobla	brain:	n/a	n/a
34	CTCF	chr5:98978840-98978990	GM12878	blood:	n/a	n/a
35	CTCF	chr5:98982020-98982170	HCT-116	colon:	n/a	n/a
36	CTCF	chr5:98977834-98977855	GM10266	blood:	n/a	n/a
37	CTCF	chr5:98982113-98982189	H1-hESC	embryonic stem cell:	n/a	n/a
38	E2F4	chr5:98925692-98925865	MCF10A-Er-Src	breast:	n/a	n/a
39	EP300	chr5:98975571-98976027	HepG2	liver:	n/a	chr5:98975885-98975895
40	EP300	chr5:98967080-98967203	GM12878	blood:	n/a	n/a
41	EP300	chr5:98936638-98937043	MCF-7	breast:	n/a	n/a
42	EP300	chr5:98936711-98937117	T-47D	breast:	n/a	n/a
43	EP300	chr5:98923774-98923830	GM12878	blood:	n/a	n/a
44	EP300	chr5:98942736-98943290	T-47D	breast:	n/a	n/a
45	ESR1	chr5:98942881-98943197	T-47D	breast:	n/a	n/a
46	ESR1	chr5:98942903-98943129	T-47D	breast:	n/a	n/a
47	ESR1	chr5:98942860-98943161	T-47D	breast:	n/a	n/a
48	FOS	chr5:98960580-98960700	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr5:98981839-98982037	MCF10A-Er-Src	breast:	n/a	chr5:98981901-98981910 chr5:98981902-98981911 chr5:98981903-98981910 chr5:98981901-98981911
50	FOS	chr5:98938073-98938250	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:
2	chr5:98936687..98938908-chr5:98939757..98941511,2	MCF-7	breast:
3	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:
4	chr5:98936687..98938908-chr5:98939757..98941511,2	MCF-7	breast:
5	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:
6	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD1-8	chr5:98930033-98930444	NONHSAT102982
2	lnc-RGMB-9	chr5:98930584-98931001	NONHSAT102983

Variant related genes	Relation type
ENSG00000248236	TF binding region
ENSG00000248928	TF binding region

Extended variants
information (count: 992 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:992 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2548098	chr5:98921515-98921516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572712172	chr5:98921525-98921526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540216454	chr5:98921559-98921560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2682160	chr5:98921572-98921573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs62376168	chr5:98921580-98921581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567007743	chr5:98921592-98921593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544357609	chr5:98921612-98921613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192589495	chr5:98921626-98921627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185434573	chr5:98921627-98921628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548456988	chr5:98921648-98921649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139557535	chr5:98921681-98921682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527629347	chr5:98921685-98921686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62376169	chr5:98921698-98921699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114795388	chr5:98921726-98921727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572679949	chr5:98921748-98921749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559164100	chr5:98921753-98921754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189911402	chr5:98921786-98921787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142580182	chr5:98921833-98921834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373989425	chr5:98921846-98921847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151079890	chr5:98921852-98921853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554786780	chr5:98921892-98921893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182601988	chr5:98921933-98921934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187153642	chr5:98921939-98921940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141054410	chr5:98921950-98921951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189171774	chr5:98922019-98922020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576780086	chr5:98922025-98922026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544296882	chr5:98922037-98922038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180855799	chr5:98922039-98922040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574642645	chr5:98922048-98922049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574380740	chr5:98922067-98922068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540212093	chr5:98922068-98922069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544890853	chr5:98922071-98922072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560135143	chr5:98922089-98922090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184975319	chr5:98922165-98922166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556653416	chr5:98922175-98922176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201829247	chr5:98922181-98922182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149838656	chr5:98922188-98922189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116258308	chr5:98922211-98922212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532390810	chr5:98922249-98922250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117463624	chr5:98922251-98922252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369919457	chr5:98922253-98922254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569004412	chr5:98922258-98922259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536397340	chr5:98922266-98922267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190235791	chr5:98922282-98922283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566987739	chr5:98922287-98922288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145869795	chr5:98922329-98922330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559010024	chr5:98922350-98922351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576725628	chr5:98922361-98922362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537849210	chr5:98922365-98922366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561307171	chr5:98922418-98922419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98915200-98930800	Weak transcription	Fetal Heart	heart
2	chr5:98922200-98923000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:98922800-98923400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:98930800-98931800	Enhancers	Fetal Heart	heart
5	chr5:98931800-98932000	Flanking Active TSS	Fetal Heart	heart
6	chr5:98932000-98932200	Enhancers	Fetal Heart	heart
7	chr5:98932200-98932400	Flanking Active TSS	Fetal Heart	heart
8	chr5:98932400-98932600	Enhancers	Fetal Heart	heart
9	chr5:98936600-98937200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:98936600-98937800	Enhancers	HUVEC	blood vessel
11	chr5:98936600-98938200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:98937200-98937600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:98937200-98937600	Enhancers	Dnd41	blood
14	chr5:98937400-98938000	Enhancers	Adipose Nuclei	Adipose
15	chr5:98937600-98938000	Flanking Active TSS	Dnd41	blood
16	chr5:98937800-98938000	Enhancers	Pancreas	Pancrea
17	chr5:98938000-98938200	Enhancers	Dnd41	blood
18	chr5:98939400-98946400	Weak transcription	Pancreas	Pancrea
19	chr5:98950600-98951200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:98950800-98951200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:98957600-98958000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:98957800-98958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:98957800-98958200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:98957800-98958400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:98958000-98958400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:98958000-98958600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:98972000-98972400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:98979000-98979200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr5:98981800-98982200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:98981800-98982200	Enhancers	NHEK	skin
31	chr5:98982000-98982200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:98982200-98983600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:98983600-98983800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:98983800-98984800	Enhancers	Fetal Heart	heart
35	chr5:98984800-98985800	Weak transcription	Fetal Heart	heart
36	chr5:98985800-98986000	Enhancers	Fetal Heart	heart
37	chr5:98993800-98994800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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